Canonical Allele Identifier: CA248393
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 156703
ClinVar RCV Id: RCV001836737
dbSNP Id: rs587777894
COSMIC: COSM1686998
MyVariant Identifiers: chr1:g.11184573G>A (hg19) chr1:g.11124516G>A (hg38)
PubMed: PMID:26619011 PMID:27159400
ERepo: CA248393/MONDO:0016054/018 CA248393/MONDO:0100283/018
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11124516G>A , CM000663.2:g.11124516G>A GRCh38
NC_000001.10:g.11184573G>A , CM000663.1:g.11184573G>A GRCh37
NC_000001.9:g.11107160G>A NCBI36
NG_033239.1:g.143036C>T , LRG_734:g.143036C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703118.1:c.*2019C>T ENSP00000515181.1:n.*2019C>T
ENST00000703131.1:n.2645C>T
ENST00000703139.1:c.1281C>T
ENST00000703140.1:c.6431C>T ENSP00000515197.1:p.Ser2144Phe
ENST00000703141.1:c.*2161C>T ENSP00000515198.1:n.*2161C>T
ENST00000703142.1:c.*3474C>T ENSP00000515199.1:n.*3474C>T
ENST00000361445.9:c.6644C>T MANE Select ENSP00000354558.4:p.Ser2215Phe
ENST00000361445.8:c.6644C>T ENSP00000354558.4:p.Ser2215Phe
ENST00000376838.5:c.1259C>T ENSP00000366034.1:p.Ser420Phe
NM_004958.3:c.6644C>T , LRG_734t1:c.6644C>T NP_004949.1:p.Ser2215Phe
XM_005263438.1:c.6644C>T XP_005263495.1:p.Ser2215Phe
XR_244786.1:n.6765C>T
XM_005263438.2:c.6644C>T XP_005263495.1:p.Ser2215Phe
XM_017000900.1:c.5963C>T XP_016856389.1:p.Ser1988Phe
XM_017000901.1:c.5396C>T XP_016856390.1:p.Ser1799Phe
XM_024446187.1:c.6644C>T XP_024301955.1:p.Ser2215Phe
XR_001737087.1:n.6765C>T
NM_004958.4:c.6644C>T MANE Select NP_004949.1:p.Ser2215Phe
NM_001386500.1:c.6644C>T NP_001373429.1:p.Ser2215Phe
NM_001386501.1:c.5396C>T NP_001373430.1:p.Ser1799Phe
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